Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

• Үндсэн зохиолчид: Mark R. Garrelfs (Зохиогч), Tuula Rinne (Зохиогч), Jacquelien J. Hillebrand (Зохиогч), Peter Lauffer (Зохиогч), Merijn W. Bijlsma (Зохиогч), Hedi L. Claahsen-van der Grinten (Зохиогч), Nicole de Leeuw (Зохиогч), Martijn J.J. Finken (Зохиогч), Joost Rotteveel (Зохиогч), Nitash Zwaveling-Soonawala (Зохиогч), Max Nieuwdorp (Зохиогч), A.S. Paul van Trotsenburg (Зохиогч), Christiaan F. Mooij (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Galenos Yayincilik, 2024-03-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8: NM_000498.3:...